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rs63750099

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GACCCAG;GACCCAG) 0 common in clinvar
Make rs63750099(-;-)
Make rs63750099(-;GACCCAG)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226772
GeneHBB
is asnp
is mentioned by
dbSNPrs63750099
ebirs63750099
HLIrs63750099
Exacrs63750099
Varsomers63750099
Maprs63750099
PheGenIrs63750099
hapmaprs63750099
1000 genomesrs63750099
hgdprs63750099
ensemblrs63750099
gopubmedrs63750099
geneviewrs63750099
scholarrs63750099
googlers63750099
pharmgkbrs63750099
gwascentralrs63750099
openSNPrs63750099
23andMers63750099
23andMe allrs63750099
SNP Nexus

SNPshotrs63750099
SNPdbers63750099
MSV3drs63750099
GWAS Ctlgrs63750099
Max Magnitude0
OMIM141900
Desc
Variant0337
Relatedalso
ClinVar
Risk rs63750099(;)
Alt rs63750099(;)
Reference rs63750099(GACCCAG;GACCCAG)
Significance Pathogenic
Disease beta^0^ Thalassemia
Variation info
Gene HBB
CLNDBN beta^0^ Thalassemia
Reversed 1
HGVS NC_000011.9:g.5248002_5248008delCTGGGTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000016684.26,


[PMID 2730955] Beta-thalassemia gene analysis in a Turkish family reveals a 7 BP deletion in the coding region.